DNA tests for patients are getting closer with advanced genome analysis

Diseases caused by genetic modifications could be detected more easily thanks to advanced software for DNA analysis.

This development will facilitate the integration of genetic testing into health care systems such as the UK's National Health Service, which supports approximately three million people affected by genetic diseases in the UK.

The new tool can detect specific genetic changes that cause disease in more than three billion letters of DNA code making up the human genome.

To do this, it establishes a link with a database of clinical information from people with genetic diseases to detect changes in DNA known to cause disease.

The software also predicts the consequences of DNA changes, thus helping to identify differences causing diseases that are not already related to a known condition.

In addition, the software analyzes genetic information databases from healthy people in order to eliminate DNA differences that seem to be able to cause illness but are harmless, which minimizes the risk false diagnoses.

Experts say this system is particularly useful for diagnosing disorders that can be caused by many different genes, such as severe intellectual disabilities in children.

The use of genetics to diagnose diseases has taken a step further when advances in DNA sequencing technology have made it affordable and possible to decode a person's genome in a matter of days .

The sheer volume of data produced – and the lack of expertise – has hampered efforts to analyze them and generate meaningful results.

The new system, available free online, will help to overcome this bottleneck and facilitate the diagnosis of genetic diseases in clinical practice and in research programs.

The research was conducted by teams from the University of Edinburgh and the European Institute of Bioinformatics of the European Molecular Biology Laboratory (EMBL-EBI). It is published in Nature Communications and was funded by Wellcome and the European Union.

Professor David FitzPatrick, of the Institute of Genetics and Molecular Medicine of the Medical Research Council of the University of Edinburgh, said: "We have developed this software to help improve the quality of life. access to a safe, rapid and accurate diagnosis of serious genetic diseases worldwide ".

Anja Thormann, Ensembl developer at the European Bioinformatics Institute, said: "This evolution means that researchers do not have to go through, for example, 300 variants to identify those that are relevant to that specific patient. pipeline means that they have only look at three or four variants ".